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Optic neuropathy v5.43 SDHA Ida Ertmanska Phenotypes for gene: SDHA were changed from Leigh syndrome, 256000; mitochondrial respiratory chain complex II deficiency 252011 to Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259; Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011; Cardiomyopathy, dilated, 1GG, OMIM:613642; Pheochromocytoma/paraganglioma syndrome 5, OMIM:614165
Optic neuropathy v5.42 SDHA Ida Ertmanska Publications for gene: SDHA were set to 27683074
Optic neuropathy v5.41 SDHA Ida Ertmanska Mode of inheritance for gene: SDHA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v5.40 SDHA Ida Ertmanska Classified gene: SDHA as Amber List (moderate evidence)
Optic neuropathy v5.40 SDHA Ida Ertmanska Gene: sdha has been classified as Amber List (Moderate Evidence).
Optic neuropathy v5.39 SDHA Ida Ertmanska reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: None; Publications: 27683074, 33471299; Phenotypes: Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic neuropathy v1.82 SDHA Ivone Leong Phenotypes for gene: SDHA were changed from to Leigh syndrome, 256000; mitochondrial respiratory chain complex II deficiency 252011
Optic neuropathy v1.81 SDHA Ivone Leong Publications for gene: SDHA were set to
Optic neuropathy v1.80 SDHA Ivone Leong Mode of inheritance for gene: SDHA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.28 SDHA Tom Cullup reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: 27683074; Phenotypes: Leigh syndrome, 256000, mitochondrial respiratory chain complex II deficiency 252011; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic neuropathy v1.27 SDHA Ivone Leong gene: SDHA was added
gene: SDHA was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: SDHA was set to